Cited by 30Retinopathy of Prematurity StudiesRetinal Development and DisordersRetinal Diseases and Treatments

The genetics of retinopathy of prematurity: A model for neovascular retinal disease

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Swan, Ryan, Kim, Sang Jin, Campbell, J. Peter, Chan, R.V. Paul, Sonmez, Kemal, Taylor, Kent D., Li, Xiaohui, Chen, Yii-Der Ida +3 more·2018·Ophthalmology Retina

Abstract

Topic Retinopathy of prematurity (ROP) is a proliferative retinal vascular disease in premature infants, and is a major cause of childhood blindness worldwide. In addition to known clinical risk factors such as low birth weight and gestational age, there is a growing body of evidence supporting a genetic basis for ROP.Clinical relevance While comorbidities and environmental factors have been identified as contributing to ROP outcomes in premature infants, most notably gestational age and oxygen, some infants progress to severe disease despite absence of these clinical risk factors. The contribution of genetic factors may explain these differences and allow better detection and treatment of infants at risk for severe ROP.Methods To comprehensively review genetic factors that potentially contribute to the development and severity of ROP, we conducted a literature search focusing on the genetic basis for ROP. Terms related to other heritable retinal vascular diseases like "familial exudative vitreoretinopathy", as well as to genes implicated in animal models of ROP, were also used to capture research in diseases with similar pathogenesis to ROP in humans with known genetic components.Results Contributions across several genetic domains are described including vascular endothelial growth factor, the Wnt signaling pathway, insulin-like growth factor 1, inflammatory mediators, and brain-derived neurotrophic factor.Conclusions Most candidate gene studies of ROP have limitations such as inability to replicate results, conflicting results from various studies, small sample size, and differences in clinical characterization. Additional difficulty arises in separating the contribution of genetic factors like Wnt signaling to ROP and prematurity. Although studies have implicated involvement of multiple signaling pathways in ROP, the genetics of ROP have not been clearly elucidated. Next-generation sequencing and genome-wide association studies have potential to expand future understanding of underlying genetic risk factors and pathophysiology of ROP.

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Crossref · 10.1016/j.oret.2018.01.016

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  • Suprachoroidal injections are less invasive than subretinal injection and involve accessing the retina by injecting into the space between the choroid and the sclera.

    “These are less invasive than subretinal injection and involve accessing the retina by injecting into the space between the choroid (overlaying the RPE) and the sclera [19].”

    From The Ocular Gene Delivery Landscape (2021) · cites this paper as [19]

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Authors
Swan, R., Kim, S. J., Campbell, J. P., Chan, R. V. P., Sonmez, K., Taylor, K. D., Li, X., Chen, Y.-D. I., Rotter, J. I., Simmons, C., & Chiang, M. F.
Affiliations
  • Oregon Health & Science University (US)
  • University of Illinois Chicago (US)
  • The Lundquist Institute (US)
  • Cedars-Sinai Medical Center (US)
Corresponding author
Chiang, Michael F.
Venue
Ophthalmology Retina
Publisher
Elsevier BV
Published
2018-09
Volume
2
Issue
9
Pages
949-962
ISSN
2468-6530 (ISSN-L)
OpenAlex
W2793224463
Cited by
30
References
155
Citations by year
2026: 1 · 2025: 2 · 2024: 4 · 2023: 9 · 2022: 4 · 2021: 6 · 2020: 4
FWCI
1.72
Type
journal article
Language
en
Open access
Locations
  • Ophthalmology Retina (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • National Institutes of Health (UL1TR001881)
  • National Eye Institute (R01EY019474, T32EY023211, P30EY010572)
  • National Institute of Diabetes and Digestive and Kidney Diseases (P30DK063491)
  • U.S. National Library of Medicine (T15LM007088)
  • National Center for Advancing Translational Sciences
Topics
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinopathy of Prematurity Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Keywords
retinopathy of prematurity, genetic risk factors, preterm infants, vascular endothelial growth factor, Wnt signaling, insulin-like growth factor I, inflammatory mediators, brain-derived neurotrophic factor, familial exudative vitreoretinopathy, childhood blindness, candidate gene association

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